1197489003: Familial chylomicronemia syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Procedure related finding\Evaluation finding\Measurement finding\...
• \Finding of substance level (finding)\Lipid level - finding\Lipids outside reference range\Lipid above reference range\Hyperlipidemia\...
• \Hyperlipidemia with lipid deposition in skin (disorder)\Primary chylomicronemia (disorder)\Chylomicronemia syndrome (disorder)\Familial chylomicronemia syndrome (disorder)
• \Endogenous hyperlipidaemia\Primary genetic hyperlipidemia (disorder)\Chylomicronemia syndrome (disorder)\Familial chylomicronemia syndrome (disorder)
• \Measurement finding outside reference range\Measurement finding above reference range\Lipid above reference range\Hyperlipidemia\Hyperlipidemia with lipid deposition in skin (disorder)\Primary chylomicronemia (disorder)\Chylomicronemia syndrome (disorder)\Familial chylomicronemia syndrome (disorder)
• \Measurement finding outside reference range\Measurement finding above reference range\Lipid above reference range\Hyperlipidemia\Endogenous hyperlipidaemia\Primary genetic hyperlipidemia (disorder)\Chylomicronemia syndrome (disorder)\Familial chylomicronemia syndrome (disorder)
• \Measurement finding outside reference range\Lipids outside reference range\Lipid above reference range\Hyperlipidemia\Hyperlipidemia with lipid deposition in skin (disorder)\Primary chylomicronemia (disorder)\Chylomicronemia syndrome (disorder)\Familial chylomicronemia syndrome (disorder)
• \Measurement finding outside reference range\Lipids outside reference range\Lipid above reference range\Hyperlipidemia\Endogenous hyperlipidaemia\Primary genetic hyperlipidemia (disorder)\Chylomicronemia syndrome (disorder)\Familial chylomicronemia syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Familial chylomicronemia syndrome (disorder)
• \Disease\Familial disease\Familial chylomicronemia syndrome (disorder)
• \Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipoprotein storage and metabolism\Hyperlipidemia\Hyperlipidemia with lipid deposition in skin (disorder)\Primary chylomicronemia (disorder)\Chylomicronemia syndrome (disorder)\Familial chylomicronemia syndrome (disorder)
• \Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipoprotein storage and metabolism\Hyperlipidemia\Endogenous hyperlipidaemia\Primary genetic hyperlipidemia (disorder)\Chylomicronemia syndrome (disorder)\Familial chylomicronemia syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 28-Feb 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4696546011	Familial chylomicronemia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4696547019	Familial chylomicronemia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5399756014	A rare genetic hyperlipidemia characterized by excessive increase in plasma triglyceride levels due to the accumulation of chylomicrons, which manifests biochemically as severe hypertriglyceridemia. Clinical manifestations include recurrent episodes of acute pancreatitis, abdominal pain, nausea, fatigue, diarrhea, hepatosplenomegaly, eruptive xanthomas, lipemia retinalis and failure to thrive. Children may be asymptomatic with later onset of symptoms. The condition is not associated with severe atherosclerosis.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399757017	A rare genetic hyperlipidaemia characterised by excessive increase in plasma triglyceride levels due to the accumulation of chylomicrons, which manifests biochemically as severe hypertriglyceridaemia. Clinical manifestations include recurrent episodes of acute pancreatitis, abdominal pain, nausea, fatigue, diarrhoea, hepatosplenomegaly, eruptive xanthomas, lipaemia retinalis and failure to thrive. Children may be asymptomatic with later onset of symptoms. The condition is not associated with severe atherosclerosis.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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